Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
GOLD service, |
RCV000190424 | SCV000191919 | pathogenic | Monoamine oxidase A deficiency | 2014-11-10 | criteria provided, single submitter | clinical testing | Phenotype consistent with described MAOA deficiency. Functional studies (bioamine levels in blood and urine) consistent with MAOA deficiency. Predicted Pathogenic PROVEAN, SIFT, Mutation Taster. Not listed Exac Database. |
OMIM | RCV000190424 | SCV000747034 | pathogenic | Monoamine oxidase A deficiency | 2015-03-23 | no assertion criteria provided | literature only |